Peining Li

发表

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

J. Mcgrath, H. Chai, A. Diadamo, 2019, Front. Genet..

Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center

A. Diadamo, Fang Xu, Peining Li, 2015, Medical science monitor : international medical journal of experimental and clinical research.

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

W. Ji, A. Szekely, H. Chai, 2020, American journal of medical genetics. Part A.

Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion

P. Hui, H. Chai, A. Diadamo, 2019, Molecular genetics & genomic medicine.

Non-Invasive Prenatal Diagnosis: A Comparison of Cell Free Fetal DNA (cffDNA) Based Screening and Fetal Nucleated Red Blood Cell (fnRBC) Initiated Testing

Xinghua Pan, Qinghua Zhou, Peining Li, 2013 .

Progress and Perspective of Professional Training in Medical Genetics and Genomics: A Report of the Association of Chinese Geneticists in America

Peining Li, Hui Z. Zhang, Chunli Yu, 2013 .

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence

H. Chai, A. Diadamo, Brittany Grommisch, 2020, Molecular genetics & genomic medicine.

A highly sensitive, high-throughput assay for the detection of Turner syndrome.

S. Rivkees, J. Gruen, S. Hosono, 2011, The Journal of clinical endocrinology and metabolism.

Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon

T. Xu, Da-ming Li, Sheng Ding, 2019, Proceedings of the National Academy of Sciences.

Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome

J. Mcgrath, M. Mahoney, Peining Li, 2017 .

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Qinghua Zhou, Peining Li, Jiansheng Xie, 2017, Molecular Cytogenetics.

Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins

P. Hui, Peining Li, E. Zambrano, 2008, American journal of medical genetics. Part A.

A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia

Yuanping Du, Zhuo Song, Wanjun Zhou, 2019, Advanced science.

ERas Enhances Resistance to Cisplatin-Induced Apoptosis by Suppressing Autophagy in Gastric Cancer Cell

Peining Li, Jianshuang Li, Qinghua Zhou, 2020, Frontiers in Cell and Developmental Biology.

Correlating genomic copy number alterations with clinicopathologic findings in a case series of hepatocellular carcinoma

Hongyu Zhao, W. Ji, Peining Li, 2020 .

Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus

B. Forget, V. Schulz, P. Gallagher, 2014, Haematologica.

Reduced Level of Ribonucleotide Reductase R2 Subunits Increases Dependence on Homologous Recombination Repair of Cisplatin-Induced DNA Damage

P. Glazer, A. Sartorelli, J. G. Cory, 2011 .

Molecular Analyses in Families with Hunter Syndrome Indicate Unequal Maleand Female Mutation Rates in the Iduronate-2-Sulfatase Gene

Peining Li, 2014 .

FISH Panel for Leukemic CTCL.

Peining Li, M. Girardi, Jaehyuk Choi, 2017, The Journal of investigative dermatology.

Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Weiqin Wu, Qinghua Zhou, Peining Li, 2015, Molecular Cytogenetics.

The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

Yiping Shen, T. Liehr, M. Crimi, 2022, HGG advances.

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

Fang Xu, Peining Li, Zhi-yong Xu, 2014, Molecular Cytogenetics.

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

Fang Xu, M. Mahoney, Peining Li, 2011, American journal of medical genetics. Part A.

Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome

Weiqin Wu, Peining Li, Zhi-yong Xu, 2017, Fetal and pediatric pathology.

Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications

Peining Li, Chenghua Cui, Peining Li, 2016, Front. Cell Dev. Biol..

Reduced Level of Ribonucleotide Reductase R2 Subunits Increases Dependence on Homologous Recombination Repair of Cisplatin-Induced DNA Damage

P. Glazer, A. Sartorelli, J. G. Cory, 2011, Molecular Pharmacology.

Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature

A. Diadamo, Brittany Grommisch, J. Wen, 2022, Global medical genetics.

Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies

Yuval Kluger, Peining Li, Fabio Parisi, 2011, BMC Genomics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Weiqin Wu, Qinghua Zhou, Peining Li, 2015, Molecular Cytogenetics.

Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues

Guilin Wang, P. Hui, S. M. Ng, 2021, Molecular cytogenetics.

Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization.

R. Bajaj, Peining Li, Bixia Xiang, 2008, Cancer genetics and cytogenetics.

Short communication Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization

R. Bajaj, Peining Li, Bixia Xiang, 2008 .

Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

A. Diadamo, Brittany Grommisch, Fang Xu, 2019, Molecular Cytogenetics.

Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples.

Peining Li, A. Diadamo, Qinghua Zhou, 2016, Journal of genetics and genomics = Yi chuan xue bao.

The Spectrum of Cytogenomic Abnormalities in Patients with Developmental Delay and Intellectual Disabilities

Fang Xu, Peining Li, W. Shu, 2016 .

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities

Fang Xu, Peining Li, Zhi-yong Xu, 2014, Molecular Cytogenetics.

Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability

Hongyu Zhao, V. Schulz, P. Gallagher, 2014, Molecular Cytogenetics.

Biobanking of Residual Specimens from Diagnostic Genetic Laboratories: Standard Operating Procedures, Ethical and Legal Considerations, and Research Applications

Xinghua Pan, Brittany Grommisch, Peining Li, 2013 .

Cytogenomic Abnormalities and Dosage-Sensitive Mechanisms for Intellectual and Developmental Disabilities

Fang Xu, Peining Li, 2013 .

Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation.

Yuan Wei, Fang Xu, Peining Li, 2013, Journal of genetics and genomics = Yi chuan xue bao.

Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay

Hongyu Zhao, N. Nowak, Peining Li, 2008, American journal of medical genetics. Part A.

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)

Peining Li, Amy B Bellows, Jerry N. Thompson, 1999, Journal of medical genetics.

Molecular and Clinicopathologic Characterization of Intravenous Leiomyomatosis

E. Oliva, Z. Ordulu, P. Hui, 2020, Modern Pathology.

Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study.

P. Hui, N. Buza, Fang Xu, 2014, Human pathology.

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma

Hongyu Zhao, W. Ji, Peining Li, 2021, BMC Medical Genomics.

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

A. Diadamo, Brittany Grommisch, Peining Li, 2020, Case reports in genetics.

Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia

Bixia Xiang, Peining Li, Stephanie Halene, 2011, Molecular Cytogenetics.

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

A. Diadamo, Brittany Grommisch, Fang Xu, 2022, Case reports in genetics.

Concomitant 1 q 42 . 13-q 44 Duplication and 14 q 32 . 33 Deletion : A Case Report and Review of Literature

Brittany Grommisch, Fang Xu, Peining Li, 2017 .

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature

M. Seashore, H. Kaymakçalan, M. Mahoney, 2009, American journal of medical genetics. Part A.

Cytogenomic Abnormalities and Underlying Mechanisms for Intellectual and Developmental Disabilities

Peining Li, 2013 .

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Marilyn M. Li, Yiping Shen, David T. Miller, 2010, The Journal of molecular diagnostics : JMD.

Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

M. Qumsiyeh, A. Szekely, Jingwei Yu, 2006, American journal of medical genetics. Part A.

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6

M. Qumsiyeh, B. Pober, Peining Li, 2004, American journal of medical genetics. Part A.

Whole-exome sequencing analysis on products of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

U. Reddy, W. Mak, Qinghua Zhou, 2020, medRxiv.

Interstitial Duplication and Distal Deletion in a Ring Chromosome 13 with Pulmonary Atresia and Ventricular Septal Defect: A Case Report and Review of Literature

Brittany Grommisch, Fang Xu, Peining Li, 2013 .

A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literature

V. Bhandari, Fang Xu, Peining Li, 2011, American journal of medical genetics. Part A.

Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst

C. Nelson-Williams, K. Kahle, Peining Li, 2017, JAMA neurology.

Integrated Analysis of Tumor Samples Sheds Light on Tumor Heterogeneity

Yuval Kluger, Peining Li, Mariann Micsinai, 2012, The Yale journal of biology and medicine.

Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene

Peining Li, T. Wood, Jerry N. Thompson, 2002, Genetics in Medicine.

Recurrent genetic defects in classical Hodgkin lymphoma cell lines

Hailong Meng, S. Kleinstein, M. Strout, 2016, Leukemia & lymphoma.

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

Peining Li, Q. Hu, Hongyan Chai, 2018, Molecular Cytogenetics.

Vascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineering.

Xia Li, L. Niklason, M. Kural, 2017, Biomaterials.

Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

J. Boyle, A. Diadamo, Brittany Grommisch, 2018, Medical sciences.

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Yuan Wei, Yangyu Zhao, Fang Xu, 2012, Case reports in genetics.

Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

Yang Liu, Peining Li, Jiansheng Xie, 2022, Frontiers in Genetics.

Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia

P. Gallagher, D. Krause, R. Bajaj, 2011, Pediatric blood & cancer.

A Broader View of Cancer Cytogenetics: From Nuclear Aberrations to Cytogenomic Abnormalities

Peining Li, C. Cui, 2016 .

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Weiqin Wu, Qinghua Zhou, Peining Li, 2017, European journal of medical genetics.

Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features.

Peining Li, M. Reyes-Múgica, M. R. Rossi, 2008, Human pathology.

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

Qinghua Zhou, Peining Li, Jiansheng Xie, 2017, Molecular Cytogenetics.

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.

J. Thompson, D. Bedwell, K. Keeling, 2001, Human molecular genetics.

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients

J. McGrath, A. Diadamo, Brittany Grommisch, 2022, American journal of medical genetics. Part A.

Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency

D. Narayan, G. Sue, Fang Xu, 2013, BMJ Case Reports.

Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability

V. Schulz, P. Gallagher, Fang Xu, 2014, Molecular Cytogenetics.

Laboratory information system

Peining Li, Richard Van Rheeden, Peining Li, 2017 .

The trade patterns of the South China Sea during the Song period

Peining Li, 2020, Asian Archaeology.

Tertiary Education System for Genetic Technologists, Counselors and Specialists

Peining Li, Katherine Wilcox, Peter Hu, 2014 .

On the Globalization and Standardization of Medical Genetics and Genomics as Clinical and Laboratory Specialties

Peining Li, Hui Z. Zhang, 2014 .

Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma.

W. Ji, J. Knight, Peining Li, 2023, Cancer genetics.

Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses

Qinghua Zhou, J. Wen, Peining Li, 2023, Molecular genetics & genomic medicine.

Reduced Level of Ribonucleotide Reductase R2 Subunits Increases Dependence on Homologous Recombination Repair of Cisplatin-Induced DNA Damage

M. Belcourt, Yashang Lee, Peining Li, 2011, Molecular Pharmacology.

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Marilyn M. Li, Yiping Shen, David T. Miller, 2010, The Journal of molecular diagnostics : JMD.

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

Peining Li, Q. Hu, Hongyan Chai, 2018, Molecular Cytogenetics.

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

Fang Xu, M. Mahoney, Peining Li, 2011, American journal of medical genetics. Part A.